The Road to the Cure

1968 The Hereditary Disease Foundation (HDF) is established by Dr. Milton Wexler when his wife Leonore is diagnosed with Huntington’s disease (HD), a fatal hereditary brain disorder. This mission of the HDF is to find treatments and cures for brain diseases such as Huntington’s disease, Parkinson’s, Alzheimer’s, and Lou Gehrig’s.

1968 The Milton Wexler Scientific Workshops, designed to encourage scientific collaboration, are established.

1979 Nancy Wexler, current HDF President, first visits Venezuela, which has the world’s highest prevalence of HD. She launches what becomes a 23-year research study with Venezuelan HD families.

1980 With an international team of doctors, Nancy begins assembling a Venezuelan family tree that will eventually encompass more than 18,000 individuals over 10 generations.

1983 With a $1,000,000 grant from the W. M. Keck Foundation, the Gene Hunters, an international collaboration of over 100 scientists searching for the Huntington’s disease gene, is formed.

1983 The Hereditary Disease Foundation is the first to use DNA markers to discover the neighborhood of the Huntington’s disease gene. Key to this discovery is David Housman of MIT, HDF Scientific Advisory Board Member. This breakthrough helps launch the Human Genome Project.

1986 As a result of the identification of DNA markers for HD, a genetic test for the disease is developed.

1993 The Gene Hunters discover what The New York Times calls, “the most coveted treasure” – the Huntington’s disease gene itself. The Albert Lasker Public Service Award is presented to Nancy Wexler for her efforts.

1997 Gillian Bates’ creation of the HD mouse leads to the discovery of clumps or “aggregates” of abnormal HD protein in the brain and other tissue in mice. This breakthrough leads to the discovery of the same clumps in human HD brain tissue.

1999 Casa Hogar, a clinic and nursing home for HD patients in Venezuela, opens with support from HDF and others.

2008 The FDA approves tetrabenazine, the first medication in the U.S. for the treatment of abnormal movements associated with HD.

2009 HDF Scientific Advisory Board Members Leslie Thompson, Joan Steffan and William Yang find a way to switch off the Huntington’s gene in mice, which cures the mice.

2010 Founding HDF Board members Berta and Frank Gehry and their family establish the Leslie Gehry Brenner Prize for Innovation in Science with a gift of $1,000,000.

2013 HDF launches a pilot study to search for “modifying genes” with whole genome sequencing of DNA from Venezuelan HD families. Advances in technology drastically reduced the cost of sequencing, making this study possible.

2014 HDF is awarded a $1,000,000 grant from the W. M. Keck Foundation to identify the genes that influence the age of onset of HD.

2015 Ionis Pharmaceuticals, in collaboration with Roche, initiates the first human clinical trial designed to directly shut down production of the HD protein.

2016 The W. M. Keck Foundation-funded project leads to the discovery of three genes that significantly impact the age of onset of HD. Two of these genes cause HD to start early and one gene makes HD start much later in life.

2016 Gene-editing (CRISPR) as a possible treatment for HD is highlighted at HDF’s Biennial Conference.

2017 Teva Pharmaceutical Industries receives FDA approval for a time-release form of deutetrabenazine, a drug that treats the movements associated with HD.

2017 HDF participates in an historic audience with Pope Francis and HD families to bring international attention to the suffering of people affected by HD worldwide.

2017 Led by Sarah Tabrizi, 2017 Leslie Gehry Brenner Prize for Innovation in Science recipient, the first human trial of a huntingtin-lowering drug, IONIS-HTTRx, demonstrates that it reduces mutant huntingtin in the nervous system and is safe and well-tolerated. This may be the biggest breakthroughs in Huntington’s disease since the discovery of the HD gene in 1993!